PAX4 loss of function alters human endocrine cell development and influences diabetes risk
Hwee Hui Lau, Nicole A. J. Krentz, Fernando Abaitua, Marta Perez‐Alcantara, Jun Wei Chan, Jila Ajeian, Soumita Ghosh, Benoite Champon, Han Sun, Alokkumar Jha, Shawn S. Hoon, Nguan Soon Tan, Daphne Su-Lyn Gardner, Shih Ling Kao, E Shyong Tai, , Adrian Kee Keong Teo
This study shows that PAX4 variants reduce beta cell function and increase diabetes risk by impairing insulin secretion and hormone gene expression in human cells.
bioRxiv · May 15, 2022 · PreprintDevelopmental Biology